Varaico: Literature-Extracted Genetic Variants

MTOR

3,894 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. T...

Pfam Domains

mTOR_domaa 854–1024UCSCSerine/threonine-protein kinase mTOR domain

FATaa 1513–1908UCSCFAT domain

HEAT_ATRaa 1918–2013UCSCSerine/threonine-protein kinase ATR-like, HEAT repeats

FRB_domaa 2015–2113UCSCFKBP12-rapamycin binding domain

PI3_PI4_kinaseaa 2181–2431UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 2518–2549UCSCFATC domain

Gene Aliases

HGNC Name

mechanistic target of rapamycin kinase

HGNC Previous Symbols

FRAP; FRAP2; FRAP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004958.4

p.G86D

c.257G>A

Surrounding Variants

1 paper

NM_004958.4

p.G86R

c.256G>C

1 paper

NM_004958.4

p.G86S

c.256G>A

1 paper

NM_004958.4

p.G86G

c.258C>A

1 paper

NM_004958.4

p.G85_G86insFs

c.255_256insAA

1 paper

NM_004958.4

p.G85G

c.255T>A

1 paper

NM_004958.4

p.I87V

c.259A>G

1 paper

NM_004958.4

p.G85V

c.254G>T

2 papers

NM_004958.4

p.G85R

c.253G>C

1 paper

NM_004958.4

p.L88L

c.262T>C

2 papers

NM_004958.4

p.L88M

c.262T>A

1 paper

NM_004958.4

p.K84K

c.252A>G

1 paper

NM_004958.4

p.L88*

c.263T>A